All transcript variants in gene TOR1AIP1

Information The variants shown are described using the NM_001267578.1 transcript reference sequence.

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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-?/. - c.1150G>A r.(?) p.(Asp384Asn) - - g.179886769G>A g.179917634G>A - - TOR1AIP1_000022 5 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs149690630 Germline - 5/2795 individuals - 0 - Mohammed Faruq
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